Cerebellar and Pontocerebellar Hypoplasia
Gene: SPTBN2

SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SCA-14 is characterised by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. Given early onset, atrophy vs hypoplasia can be difficult to distinguish.

At least 3 unrelated families reported, dog model.
Created: 14 Feb 2021, 7:17 a.m. | Last Modified: 14 Feb 2021, 7:17 a.m.

Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386

Publications

Created: 14 Feb 2021, 7:17 a.m.
Last Modified: 14 Feb 2021, 7:17 a.m.
Panel version: 0.201

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386

OMIM

604985

Clinvar variants

Variants in SPTBN2

Penetrance

None

Publications

Panels with this gene